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    KRT86 keratin 86 [ Homo sapiens (human) ]

    Gene ID: 3892, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRT86provided by HGNC
    Official Full Name
    keratin 86provided by HGNC
    Primary source
    HGNC:HGNC:6463
    See related
    Ensembl:ENSG00000170442 MIM:601928; AllianceGenome:HGNC:6463
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HB6; Hb1; K86; MNX; KRTHB1; KRTHB6
    Summary
    This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KRT86 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52274645..52309163)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52238211..52273084)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52668429..52702947)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52645720-52646220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52646221-52646721 Neighboring gene keratin 87, pseudogene Neighboring gene keratin 88, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:52673861-52675060 Neighboring gene keratin 81 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52698416-52698916 Neighboring gene uncharacterized LOC124902935 Neighboring gene keratin 83

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. Khandpur S, et al. Ann Genet, 2004 Jan-Mar. PMID 15050877
    2. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. Ye ZZ, et al. Chin Med J (Engl), 2013 Aug. PMID 23981620
    3. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. De Cruz R, et al. Br J Dermatol, 2012 Jun. PMID 22670615
    4. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. Feng YG, et al. J Dermatol, 2012 Sep. PMID 22568869
    5. Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. ZHANG SD, et al. Eur J Dermatol, 2009 Sep-Oct. PMID 19505862

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family.
      Title: Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family.
    2. Study reported here a three-generation Chinese family with autosomal dominant monilethrix carrying a novel missense mutation c.1223G>C in KRT86.
      Title: Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix.
    3. Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix.
      Title: A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
    4. Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
      Title: Novel KRT83 and KRT86 mutations associated with monilethrix.
    5. The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix.
      Title: Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
    6. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
      Title: Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
    7. Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
      Title: A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
    8. Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
      Title: Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
    9. The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
      Title: [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
    10. Observational study of genotype prevalence. (HuGE Navigator)
      Title: A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Beaded hair
    MedGen: C0546966 OMIM: 158000 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of keratin 86 (KRT86; KRTHB6) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in keratin filament IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    keratin, type II cuticular Hb6
    Names
    hair keratin K2.11
    hard keratin, type II, 6
    keratin 86, type II
    keratin protein HB6
    keratin, hair, basic, 6 (monilethrix)
    type II hair keratin Hb6
    type-II keratin Kb26

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008086.2 RefSeqGene

      Range
      5001..39519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320198.2 → NP_001307127.1  keratin, type II cuticular Hb6

      Status: REVIEWED

      Source sequence(s)
      AI368926, AK292237, BC069585, BG216771, DC399862
      Consensus CDS
      CCDS41785.1
      UniProtKB/Swiss-Prot
      O43790, P78387
      UniProtKB/TrEMBL
      A8K872, B4DN72
      Related
      ENSP00000444533.1, ENST00000423955.7
      Conserved Domains (2) summary
      pfam00038
      Location:105 → 416
      Filament; Intermediate filament protein
      pfam16208
      Location:40 → 102
      Keratin_2_head; Keratin type II head

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52274645..52309163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268866.5 → XP_005268923.1  keratin, type II cuticular Hb6 isoform X1

      UniProtKB/TrEMBL
      A8K872, B4DN72
      Conserved Domains (4) summary
      pfam00038
      Location:182 → 493
      Filament; Intermediate filament protein
      pfam16208
      Location:80 → 179
      Keratin_2_head; Keratin type II head
      cl09111
      Location:302 → 417
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
      cl23720
      Location:392 → 460
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52238211..52273084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372044.1 → XP_054228019.1  keratin, type II cuticular Hb6 isoform X1

    2. XM_054372045.1 → XP_054228020.1  keratin, type II cuticular Hb6 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002284.3: Suppressed sequence

      Description
      NM_002284.3: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43790.1 GenPept UniProtKB/Swiss-Prot:O43790

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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